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Severe immunodeficiency with sensitivity to ionizing radiation
Clinical Genetic Test
Help
offered by
Department of Clinical Immunology
GTR Test Accession: Help GTR000500274.1
IMMUNOLOGYINHERITED DISEASEMETABOLIC DISEASE ... View more
Registered in GTR: 2012-12-05
View version history
Last annual review date for the lab: 2023-06-12 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Severe combined immunodeficiency due to DCLRE1C deficiency
Genes (1): Help
DCLRE1C (10p13)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Uni-directional Sanger sequencing
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Department of Clinical Immunology
Specimen Source: Help
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Isolated DNA
  • Peripheral (whole) blood
  • Plasma
  • White blood cell prep
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Artemis
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
by email
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: specify by order
Confirmation of research findings
Custom Sequence Analysis
    Comment: specify by order
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
ABI3130XL
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
finding will be reported and suggested significance specified

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
ABI3130XL
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
90-100
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
SeqScape

Laboratory's policy on reporting novel variations Help
finding will be reported and suggested significance specified
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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